EGF-containing fibulin-like extracellular matrix protein 2

Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation of smooth muscle cell (SMC) and in the mechanical properties and wall integrity maintenance of the aorta (PubMed:27339457). In addition, is involved in the control of collagen fibril assembly in tissue throught proteolytic activation of LOX leading to cross- linking of collagen and elastin (By similarity). Also promotes ELN coacervation and participates in the deposition of ELN coacervates on to microfibrils but also regulates ELN cross- linking through LOX interaction (PubMed:18973305, PubMed:19570982). Moreover adheres to the cells through heparin binding in a calcium-dependent manner and regulates vascularlar smooth muscle cells proliferation through angiotensin signaling (PubMed:23782690).

Cutis laxa, autosomal recessive, 1B

ARCL1B

A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels.

None

The disease is caused by variants affecting the gene represented in this entry.

N-glycosylated; contains mostly complex-type glycans (PubMed:23782690, PubMed:27339457). Not O-glycosylated (PubMed:27339457).

Cleaved by ELANE; produces a 50-55 kDa fragment (PubMed:27339457). Cleaved by MMP2 and MMP9; produces several fragments (PubMed:27339457).

Belongs to the fibulin family.

• Secreted
• Extracellular space
• Extracellular matrix
• Secreted
• Extracellular space
• Extracellular matrix
• Basement membrane
• Localizes on the microfibrils surrounding ELN cores.

FBLN4, UNQ200/PRO226, EFEMP2, EGF-containing fibulin-like extracellular matrix protein 2, Fibulin-4, Protein UPH1, FIBL-4

• entrezGene:30008
• omim:604633
• swissprot:O95967

Proteins

Oncology

49405Da